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https://www.readbyqxmd.com/read/28214514/detecting-circulating-tumor-dna-in-renal-cancer-an-open-challenge
#1
Claudia Corrò, Tomas Hejhal, Cédric Poyet, Tullio Sulser, Thomas Hermanns, Thomas Winder, Gerald Prager, Peter J Wild, Ian Frew, Holger Moch, Markus Rechsteiner
BACKGROUND: Detection of circulating tumor DNA (ctDNA) in blood of cancer patients is regarded as an important step towards personalized medicine and treatment monitoring. In the present study, we investigated the clinical applicability of ctDNA as liquid biopsy in renal cancer. METHODS: ctDNA in serum and plasma samples derived from ccRCC and colon cancer patients as well as ctDNA isolated from RCC xenografts with known VHL mutation status was investigated using next generation sequencing (NGS)...
February 15, 2017: Experimental and Molecular Pathology
https://www.readbyqxmd.com/read/28199314/whole-genome-landscape-of-pancreatic-neuroendocrine-tumours
#2
Aldo Scarpa, David K Chang, Katia Nones, Vincenzo Corbo, Ann-Marie Patch, Peter Bailey, Rita T Lawlor, Amber L Johns, David K Miller, Andrea Mafficini, Borislav Rusev, Maria Scardoni, Davide Antonello, Stefano Barbi, Katarzyna O Sikora, Sara Cingarlini, Caterina Vicentini, Skye McKay, Michael C J Quinn, Timothy J C Bruxner, Angelika N Christ, Ivon Harliwong, Senel Idrisoglu, Suzanne McLean, Craig Nourse, Ehsan Nourbakhsh, Peter J Wilson, Matthew J Anderson, J Lynn Fink, Felicity Newell, Nick Waddell, Oliver Holmes, Stephen H Kazakoff, Conrad Leonard, Scott Wood, Qinying Xu, Shivashankar Hiriyur Nagaraj, Eliana Amato, Irene Dalai, Samantha Bersani, Ivana Cataldo, Angelo P Dei Tos, Paola Capelli, Maria Vittoria Davì, Luca Landoni, Anna Malpaga, Marco Miotto, Vicki L J Whitehall, Barbara A Leggett, Janelle L Harris, Jonathan Harris, Marc D Jones, Jeremy Humphris, Lorraine A Chantrill, Venessa Chin, Adnan M Nagrial, Marina Pajic, Christopher J Scarlett, Andreia Pinho, Ilse Rooman, Christopher Toon, Jianmin Wu, Mark Pinese, Mark Cowley, Andrew Barbour, Amanda Mawson, Emily S Humphrey, Emily K Colvin, Angela Chou, Jessica A Lovell, Nigel B Jamieson, Fraser Duthie, Marie-Claude Gingras, William E Fisher, Rebecca A Dagg, Loretta M S Lau, Michael Lee, Hilda A Pickett, Roger R Reddel, Jaswinder S Samra, James G Kench, Neil D Merrett, Krishna Epari, Nam Q Nguyen, Nikolajs Zeps, Massimo Falconi, Michele Simbolo, Giovanni Butturini, George Van Buren, Stefano Partelli, Matteo Fassan, Kum Kum Khanna, Anthony J Gill, David A Wheeler, Richard A Gibbs, Elizabeth A Musgrove, Claudio Bassi, Giampaolo Tortora, Paolo Pederzoli, John V Pearson, Nicola Waddell, Andrew V Biankin, Sean M Grimmond
The diagnosis of pancreatic neuroendocrine tumours (PanNETs) is increasing owing to more sensitive detection methods, and this increase is creating challenges for clinical management. We performed whole-genome sequencing of 102 primary PanNETs and defined the genomic events that characterize their pathogenesis. Here we describe the mutational signatures they harbour, including a deficiency in G:C > T:A base excision repair due to inactivation of MUTYH, which encodes a DNA glycosylase. Clinically sporadic PanNETs contain a larger-than-expected proportion of germline mutations, including previously unreported mutations in the DNA repair genes MUTYH, CHEK2 and BRCA2...
February 15, 2017: Nature
https://www.readbyqxmd.com/read/28187001/molecular-markers-of-paragangliomas-pheochromocytomas
#3
REVIEW
Svetlana O Zhikrivetskaya, Anastasiya V Snezhkina, Andrew R Zaretsky, Boris Y Alekseev, Anatoly V Pokrovsky, Alexander L Golovyuk, Nataliya V Melnikova, Oleg A Stepanov, Dmitry V Kalinin, Alexey A Moskalev, George S Krasnov, Alexey A Dmitriev, Anna V Kudryavtseva
Paragangliomas/pheochromocytomas comprise rare tumors that arise from the extra-adrenal paraganglia, with an incidence of about 2 to 8 per million people each year. Approximately 40% of cases are due to genetic mutations in at least one out of more than 30 causative genes. About 25-30% of pheochromocytomas/paragangliomas develop under the conditions of a hereditary tumor syndrome a third of which are caused by mutations in the VHL gene. Together, the gene mutations in this disorder have implicated multiple processes including signaling pathways, translation initiation, hypoxia regulation, protein synthesis, differentiation, survival, proliferation, and cell growth...
February 8, 2017: Oncotarget
https://www.readbyqxmd.com/read/28183787/prognostic-significance-of-diffuse-sclerosing-variant-papillary-thyroid-carcinoma-a-systematic-review-and-meta-analysis
#4
Huy Gia Vuong, Tetsuo Kondo, Thong Quang Pham, Naoki Oishi, Kunio Mochizuki, Tadao Nakazawa, Lewis Hassell, Ryohei Katoh
OBJECTIVE: Diffuse sclerosing variant papillary thyroid carcinoma (DSVPTC) is an uncommon variant of papillary thyroid carcinoma (PTC). The biological behaviors and prognostic outcomes of this variant, however, are still controversial. The aim of this systematic review and meta-analysis is to investigate the prognostic significance and outcomes of DSVPTCs in comparison with classical PTCs (cPTCs). METHODS: An electronic search was performed in five libraries: PubMed, Scopus, ISI, World Health Organization Global Health Library (WHO GHL) and Virtual Health Library (VHL) in June 2016...
April 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28178687/beluga-whale-pvhl-enhances-hif-2%C3%AE-activity-via-inducing-hif-2%C3%AE-proteasomal-degradation-under-hypoxia
#5
Jianling Bi, Bo Hu, Jing Wang, Xing Liu, Jinsong Zheng, Ding Wang, Wuhan Xiao
Aquatic mammals, such as cetaceans experience various depths, with accordingly diverse oxygenation, thus, cetaceans have developed adaptations for hypoxia, but mechanisms underlying this tolerance to low oxygen are unclear. Here we analyzed VHL and HIF-2α, in the hypoxia signaling pathway. Variations in VHL are greater than HIF-2α between cetaceans and terrestrial mammals, and beluga whale VHL (BW-VHL) promotes HIF-2α degradation under hypoxia. BW-VHL catalyzes BW-HIF-2α to form K48-linked poly-ubiquitin chains mainly at the lysine 429 of BW-HIF-2α (K429) and induces BW-HIF-2α for proteasomal degradation...
February 2, 2017: Oncotarget
https://www.readbyqxmd.com/read/28169069/difficulties-in-the-management-of-retinal-capillary-haemangiomas-associated-with-von-hippel-lindau-disease
#6
M Pastor-Montoro, N Hurtado-Montalbán, J A Martínez-Morales, M P Villegas-Pérez
CLINICAL CASE: A 29-year-old female with bilateral retinal capillary haemangiomas (RCH). A genetic analysis was carried out due to the suspicion of von Hippel-Lindau (VHL) disease, with negative results on 2occasions. There was progression of the RCH in the left eye, leading to a macular epiretinal membrane. The patient was treated with laser, intravitreal ranibizumab, and vitrectomy. Finally, a third genetic test detected a de novo mutation in the VHL gene, and led to the genetic diagnosis...
February 3, 2017: Archivos de la Sociedad Española de Oftalmología
https://www.readbyqxmd.com/read/28149884/p53-mutations-and-cancer-a-tight-linkage
#7
COMMENT
Francesco Perri, Salvatore Pisconti, Giuseppina Della Vittoria Scarpati
P53 is often mutated in solid tumors, in fact, somatic changes involving the gene encoding for p53 (TP53) have been discovered in more than 50% of human malignancies and several data confirmed that p53 mutations represent an early event in cancerogenesis. Main p53 functions consist in cell cycle arrest, DNA repair, senescence and apoptosis induction in response to mutagenic stimuli, and, to exert those functions, p53 acts as transcriptional factor. Recent data have highlighted another very important role of p53, consisting in regulate cell metabolism and cell response to oxidative stress...
December 2016: Annals of Translational Medicine
https://www.readbyqxmd.com/read/28138036/suppression-of-the-growth-and-invasion-of-human-head-and-neck-squamous-cell-carcinomas-via-regulating-stat3-signaling-and-mir-21-%C3%AE-catenin-axis-with-hjc0152
#8
Yu Wang, Sinan Wang, Yansheng Wu, Yu Ren, Zhaoqing Li, Xiaofeng Yao, Chao Zhang, Na Ye, Chao Jing, Jiabin Dong, Kailiang Zhang, Shanshan Sun, Minghui Zhao, Wenyu Guo, Xin Qu, Yu Qiao, Haiying Chen, Linhgping Kong, Rui Jin, Xudong Wang, Lun Zhang, Jia Zhou, Qiang Shen, Xuan Zhou
Signal transducer and activator of transcription 3 (STAT3) is involved in the tumor growth and metastasis of human head and neck squamous cell carcinoma (HNSCC) and is therefore a target with therapeutic potential. In this study, we show that HJC0152, a recently developed anticancer agent and a STAT3 signaling inhibitor, exhibits promising antitumor effects against HNSCC both in vitro and in vivo via inactivating STAT3 and downstream microRNA-21/β-catenin axis. HJC0152 treatment efficiently suppressed HNSCC cell proliferation, arrested the cell cycle at the G0/G1 phase, induced apoptosis, and reduced cell invasion in both SCC25 and CAL27 cell lines...
January 30, 2017: Molecular Cancer Therapeutics
https://www.readbyqxmd.com/read/28129856/zebrafish-as-a-model-for-von-hippel-lindau-and-hypoxia-inducible-factor-signaling
#9
H R Kim, D Greenald, A Vettori, E Markham, K Santhakumar, F Argenton, F van Eeden
Oxygen is a central molecule in the development of multicellular life, allowing efficient energy generation. Inadequate oxygen supply requires rapid adaptations to prevent cellular damage and the hypoxia-inducible factor (HIF) pathway plays a central role in this adaptation. Numerous diseases and disease processes are influenced by hypoxia and the HIF pathway. One component, von Hippel Lindau (VHL), is a well-known tumor suppressor, which acts at least in part via regulating HIF signaling. The zebrafish has become a central vertebrate model organism in which developmental and disease processes can be studied...
2017: Methods in Cell Biology
https://www.readbyqxmd.com/read/28129633/stereotactic-radiosurgery-versus-surgical-resection-for-spinal-hemangioblastoma-a-systematic-review
#10
REVIEW
Kelly J Bridges, Jerry J Jaboin, Charlotte D Kubicky, Khoi D Than
Spinal cord hemangioblastomas are benign vascular tumors arising sporadically in approximately 70-80% of cases. They can also be manifestations of von Hippel-Lindau (VHL) disease, as these patients will often have multiple spinal hemangioblastomas. Historically, surgical management of symptomatic intramedullary hemangioblastomas has been considered the treatment of choice. However, recently, stereotactic radiosurgery has been utilized as an adjuvant therapeutic modality, and some have suggested it may have utility as the primary treatment option for these tumors...
January 18, 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/28120493/cd34-immunostaining-enhances-a-distinct-pattern-of-intratumor-angiogenesis-with-prognostic-implications-in-clear-cell-renal-cell-carcinoma
#11
José I López, Asier Erramuzpe, Rosa Guarch, Jesús M Cortés, Rafael Pulido, Roberto Llarena, Javier C Angulo
Clear cell renal cell carcinoma is an aggressive neoplasm related to VHL gene inactivation. The molecular events derived from this initial alteration lead to a permanent intracellular pseudo-hypoxic status that stimulates vascular proliferation. The resulting increased intratumor angiogenesis is the target of most modern therapies. Although intratumor angiogenesis has received full attention in the last years, few studies have focused on its potential importance from a strict morphological approach. Intratumor angiogenesis has been analyzed in a retrospective series of clear cell renal cell carcinomas (n = 208) with long-term follow-up (n = 177)...
February 2017: APMIS: Acta Pathologica, Microbiologica, et Immunologica Scandinavica
https://www.readbyqxmd.com/read/28118605/boosting-the-hypoxic-response-in-myeloid-cells-accelerates-resolution-of-fibrosis-and-regeneration-of-the-liver-in-mice
#12
Chahrazade Kantari-Mimoun, Ewelina Krzywinska, Magali Castells, Corinne Milien, Ralph Klose, Anna-Katharina Meinecke, Ursula Lemberger, Thomas Mathivet, Milos Gojkovic, Katrin Schrödter, Christoph Österreicher, Joachim Fandrey, Helene Rundqvist, Christian Stockmann
We have recently shown that targeting Vascular Endothelial Growth Factor (VEGF) specifically in scar-infiltrating myeloid cells prevented remodeling of the sinusoidal vasculature and abrogated the resolution of murine liver fibrosis, thereby unmasking an unanticipated link between angiogenesis and resolution of fibrosis. In a gain of function approach, we wanted to test the impact of VEGF overexpression in myeloid cells on fibrolysis. We observe that genetic inactivation of the von Hippel Lindau protein (VHL), a negative regulator of Hypoxia-inducible factors (HIF) in myeloid cells, leads to increased VEGF expression and most importantly, accelerated matrix degradation and reduced myofibroblast numbers after CCl4 challenge...
January 19, 2017: Oncotarget
https://www.readbyqxmd.com/read/28118078/fem1-proteins-are-ancient-regulators-of-slbp-degradation
#13
John F Dankert, Julia K Pagan, Natalia G Starostina, Edward T Kipreos, Michele Pagano
FEM1A, FEM1B, and FEM1C are evolutionarily-conserved VHL-box proteins, the substrate recognition subunits of CUL2-RING E3 ubiquitin ligase complexes. Here, we report that FEM1 proteins are ancient regulators of Stem-Loop Binding Protein (SLBP), a conserved protein that interacts with the stem loop structure located in the 3' end of canonical histone mRNAs and functions in mRNA cleavage, translation and degradation. SLBP levels are highest during S-phase coinciding with histone synthesis. The ubiquitin ligase complex SCF(cyclin F) targets SLBP for degradation in G2 phase; however, the regulation of SLBP during other stages of the cell cycle is poorly understood...
January 24, 2017: Cell Cycle
https://www.readbyqxmd.com/read/28118059/the-effects-of-dehydroepiandrosterone-on-sexual-function-a-systematic-review
#14
C Peixoto, C G Carrilho, J A Barros, T T S B Ribeiro, L M Silva, A E Nardi, A Cardoso, A B Veras
OBJECTIVE: Faced with the growing interest about the action of dehydroepiandrosterone (DHEA) and its benefits, as well as the negative impacts that sexual dysfunctions have on people's quality of life, this systematic review was undertaken with the objective of evaluating the effect of DHEA use on aspects of sexual function. METHOD: An electronic search was conducted in the databases of PubMed, ISI Web of Science and Virtual Health Library (VHL) combining the terms 'DHEA treatment' and 'DHEA use' with terms such as 'sexual dysfunction', 'sexual frequency' and 'libido'...
January 24, 2017: Climacteric: the Journal of the International Menopause Society
https://www.readbyqxmd.com/read/28114281/ubiquitination-and-regulation-of-aurka-identifies-a-hypoxia-independent-e3-ligase-activity-of-vhl
#15
E Hasanov, G Chen, P Chowdhury, J Weldon, Z Ding, E Jonasch, S Sen, C L Walker, R Dere
The hypoxia-regulated tumor-suppressor von Hippel-Lindau (VHL) is an E3 ligase that recognizes its substrates as part of an oxygen-dependent prolyl hydroxylase (PHD) reaction, with hypoxia-inducible factor α (HIFα) being its most notable substrate. Here we report that VHL has an equally important function distinct from its hypoxia-regulated activity. We find that Aurora kinase A (AURKA) is a novel, hypoxia-independent target for VHL ubiquitination. In contrast to its hypoxia-regulated activity, VHL mono-, rather than poly-ubiquitinates AURKA, in a PHD-independent reaction targeting AURKA for degradation in quiescent cells, where degradation of AURKA is required to maintain the primary cilium...
January 23, 2017: Oncogene
https://www.readbyqxmd.com/read/28112274/hypoxia-inducible-factors-are-dispensable-for-myeloid-cell-migration-into-the-inflamed-mouse-eye
#16
Peter J Gardner, Sidath E Liyanage, Enrico Cristante, Robert D Sampson, Andrew D Dick, Robin R Ali, James W Bainbridge
Hypoxia inducible factors (HIFs) are ubiquitously expressed transcription factors important for cell homeostasis during dynamic oxygen levels. Myeloid specific HIFs are crucial for aspects of myeloid cell function, including their ability to migrate into inflamed tissues during autoimmune disease. This contrasts with the concept that accumulation of myeloid cells at ischemic and hypoxic sites results from a lack of chemotactic responsiveness. Here we seek to address the role of HIFs in myeloid trafficking during inflammation in a mouse model of human uveitis...
January 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28112200/reduction-of-hepatic-fibrosis-by-overexpression-of-von-hippel-lindau-protein-in-experimental-models-of-chronic-liver-disease
#17
Jizhou Wang, Zhaoyang Lu, Zhilin Xu, Pei Tian, Hui Miao, Shangha Pan, Ruipeng Song, Xueying Sun, Baolei Zhao, Dawei Wang, Yong Ma, Xuan Song, Shugeng Zhang, Lianxin Liu, Hongchi Jiang
Hypoxia-inducible factor (HIF)-1α and HIF-2α play an important role in liver fibrosis. von Hippel-Lindau protein (VHL), a key mediator of HIF-α, regulates fibrosis in an organ- and cell-specific way. In this study, human liver samples were collected from hepatitis C-, alcoholic-, and cholestatic-associated fibrotic and healthy individuals. Two mouse models of liver fibrosis were established: bile duct ligation and carbon tetrachloride injection. We constructed adenovirus vectors to overexpress VHL, normoxia-active HIF-α, and lentiviral vectors to silence HIF-α...
January 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28110220/hypoxia-inducing-factor-hif-1%C3%AE-derived-peptide-capable-of-inducing-cancer-reactive-cytotoxic-t-lymphocytes-from-hla-a24-patients-with-renal-cell-carcinoma
#18
Takafumi Minami, Naoki Matsumura, Koichi Sugimoto, Nobutaka Shimizu, Marco De Velasco, Masahiro Nozawa, Kazuhiro Yoshimura, Nanae Harashima, Mamoru Harada, Hirotsugu Uemura
Hypoxic tumor microenvironment makes cancer cells to be therapy-resistant and hypoxia-inducing factors (HIFs) play a central role in hypoxic adaptation. Especially, renal cell carcinoma (RCC) is often associated with von Hippel-Lindau (VHL) gene mutations, leading to up-regulation of HIFs. However, from a different point of view, this suggests the possibility that HIFs could be promising targets in anti-cancer therapy. In this study, we searched for HIF-1α-derived peptides that are able to induce RCC-reactive cytotoxic T lymphocytes (CTLs) from HLA-A24(+) RCC patients...
January 19, 2017: International Immunopharmacology
https://www.readbyqxmd.com/read/28103578/prognostic-and-predictive-value-of-vhl-gene-alteration-in-renal-cell-carcinoma-a-meta-analysis-and-review
#19
Bum Jun Kim, Jung Han Kim, Hyeong Su Kim, Dae Young Zang
The von Hippel-Lindau (VHL) gene is often inactivated in sporadic renal cell carcinoma (RCC) by mutation or promoter hypermethylation. The prognostic or predictive value of VHL gene alteration is not well established. We conducted this meta-analysis to evaluate the association between the VHL alteration and clinical outcomes in patients with RCC. We searched PUBMED, MEDLINE and EMBASE for articles including following terms in their titles, abstracts, or keywords: 'kidney or renal', 'carcinoma or cancer or neoplasm or malignancy', 'von Hippel-Lindau or VHL', 'alteration or mutation or methylation', and 'prognostic or predictive'...
January 17, 2017: Oncotarget
https://www.readbyqxmd.com/read/28099933/loss-of-maternal-chromosome-11-is-a-signature-event-in-sdhaf2-sdhd-and-vhl-related-paragangliomas-but-less-significant-in-sdhb-related-paragangliomas
#20
Attje S Hoekstra, Erik F Hensen, Ekaterina S Jordanova, Esther Korpershoek, Anouk Na van der Horst-Schrivers, Cees Cornelisse, Eleonora Pm Corssmit, Frederik J Hes, Jeroen C Jansen, Henricus Pm Kunst, Henri Jlm Timmers, Adrian Bateman, Diana Eccles, Judith Vmg Bovée, Peter Devilee, Jean-Pierre Bayley
Germline mutations in the succinate dehydrogenase (SDHA, SDHB, SDHC, SDHD, SDHAF2) or Von Hippel-Lindau (VHL) genes cause hereditary paraganglioma/pheochromocytoma. While SDHB (1p36) and VHL (3p25) are associated with autosomal dominant disease, SDHD (11q23) and SDHAF2 (11q13) show a remarkable parent-of-origin effect whereby tumor formation is almost completely dependent on paternal transmission of the mutant allele. Loss of the entire maternal copy of chromosome 11 occurs frequently in SDHD-linked tumors, and has been suggested to be the basis for this typical inheritance pattern...
January 14, 2017: Oncotarget
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